Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Mubeen Khan"'
Autor:
Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4
Externí odkaz:
https://doaj.org/article/c46ab88922e84dc084946bcf34d83944
Autor:
Zelia Corradi, Mubeen Khan, Rebekkah Hitti-Malin, Ketan Mishra, Laura Whelan, Stéphanie S. Cornelis, Carel B. Hoyng, Kati Kämpjärvi, Caroline C.W. Klaver, Petra Liskova, Heidi Stöhr, Bernhard H.F. Weber, Sandro Banfi, G. Jane Farrar, Dror Sharon, Jana Zernant, Rando Allikmets, Claire-Marie Dhaenens, Frans P.M. Cremers
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100237- (2023)
Summary: The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further lig
Externí odkaz:
https://doaj.org/article/a1a8d45cbb204fa082951b43db411a0f
Publikováno v:
Journal of Patient-Centered Research and Reviews, Vol 9, Iss 3, Pp 181-184 (2022)
Hepatocellular carcinoma (HCC) is primary hepatic malignancy with a high incidence of recurrence. The risk of recurrence directly correlates to patient’s overall prognosis. Management of advanced HCC involves a combination of surgical resection, lo
Externí odkaz:
https://doaj.org/article/7e3afbce97074aedbd4661c29760c1db
Autor:
Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 412-427 (2020)
Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein. Over the past few years, we and others have identified several path
Externí odkaz:
https://doaj.org/article/fef9411ebfc84afcbba7915f60706bd7
Autor:
Abhishek Gupta, Vijayalakshmi Kondajji Ramachandra, Mubeen Khan, Kumari Sonam Jha, K. S. Vedaraju, Nirmala Alagudu Channaiah
Publikováno v:
International Journal of Dentistry, Vol 2021 (2021)
Background. Diabetes mellitus is a metabolic disease which is seen increasing globally and is diagnosed and monitored on basis of invasive blood investigations. Salivary glands are affected in diabetes mellitus. The objective of this study was to ass
Externí odkaz:
https://doaj.org/article/ec1c690186b94e3c9b4246f7fd2bf06e
Autor:
Abhishek Singh Nayyar, Mubeen Khan, Bharat Deosarkar, Soniya Bharat Deosarkar, K V Chalapathi, G Kartheek, B Kartheeki
Publikováno v:
Journal of Medical Sciences, Vol 38, Iss 1, Pp 7-15 (2018)
The salivary fluid has an old history of study, but its physiological importance has only been recognized recently. In the past 50 years, the pace of salivary research has accelerated with the advent of new techniques that illuminated the biochemical
Externí odkaz:
https://doaj.org/article/7286d88c24db49dfb484cad9402b9368
Publikováno v:
Journal of Indian Academy of Oral Medicine and Radiology, Vol 29, Iss 2, Pp 84-89 (2017)
Objectives: To assess the alveolar bone density by fractal dimension (FD) analysis in radiovisiograph of postmenopausal women of mandibular posterior region and to correlate FD values with t-scores of quantitative ultrasound of the calcaneus bone. Ma
Externí odkaz:
https://doaj.org/article/ddabbd171c61477485213a5b995f3e36
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 19, Iss 1, Pp 48-50 (2018)
Hereditary sensory and autonomic neuropathies (HSANs) are a group of disorders characterized by insensitivity to noxious stimuli and autonomic dysfunction, associated with pathological abnormalities of the peripheral nerves. Five types of HSAN have b
Externí odkaz:
https://doaj.org/article/01b6a472b98848ebaf7a1dbda547679f
Autor:
Puja Rai, Jasmeet Singh, Mubeen Khan, Shivakumar Ganiga Channaiah, Mathew Tharakan, Sridhar Reddy Erugula
Publikováno v:
Journal of Indian Academy of Oral Medicine and Radiology, Vol 28, Iss 1, Pp 2-6 (2016)
Introduction: Chronic renal failure (CRF) is an important health problem worldwide with a tendency of annual progression. Renal failure could alter the balance of the stomatognathic system, thus conditioning the prevalence of oral diseases at its dif
Externí odkaz:
https://doaj.org/article/19dfd3d5ca78455083e8e4f7014e5756
Autor:
Mubeen Khan, Stéphanie S. Cornelis, Riccardo Sangermano, Iris J.M. Post, Amber Janssen Groesbeek, Jan Amsu, Christian Gilissen, Alejandro Garanto, Rob W.J. Collin, Frans P.M. Cremers
Publikováno v:
International Journal of Molecular Sciences, Vol 21, Iss 7, p 2300 (2020)
Noncanonical splice-site mutations are an important cause of inherited diseases. Based on in vitro and stem-cell-based studies, some splice-site variants show a stronger splice defect than expected based on their predicted effects, suggesting that ot
Externí odkaz:
https://doaj.org/article/280cab895a174371bac2b9055c18cf28